MCID: CRB095
MIFTS: 16

Cerebral Palsy, Spastic Quadriplegic, 3

Categories: Genetic diseases

Aliases & Classifications for Cerebral Palsy, Spastic Quadriplegic, 3

MalaCards integrated aliases for Cerebral Palsy, Spastic Quadriplegic, 3:

Name: Cerebral Palsy, Spastic Quadriplegic, 3 57 6
Cpsq3 57 75
Cerebral Palsy, Spastic Quadriplegic 3 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable severity
one consanguineous jordanian family with 4 affected sibs has been reported (last curated june 2016)


HPO:

32
cerebral palsy, spastic quadriplegic, 3:
Onset and clinical course variable expressivity infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cerebral Palsy, Spastic Quadriplegic, 3

UniProtKB/Swiss-Prot : 75 Cerebral palsy, spastic quadriplegic 3: A form of cerebral palsy, a group of non-progressive disorders of movement and/or posture resulting from defects in the developing central nervous system. CPSQ3 is an autosomal recessive neurodevelopmental disorder characterized by variable spasticity and cognitive impairment.

MalaCards based summary : Cerebral Palsy, Spastic Quadriplegic, 3, also known as cpsq3, is related to spastic paraplegia 50, autosomal recessive. An important gene associated with Cerebral Palsy, Spastic Quadriplegic, 3 is ADD3 (Adducin 3). Related phenotypes are microcephaly and exotropia

Description from OMIM: 617008

Related Diseases for Cerebral Palsy, Spastic Quadriplegic, 3

Diseases in the Cerebral Palsy, Spastic Quadriplegic, 1 family:

Cerebral Palsy, Spastic Quadriplegic, 2 Cerebral Palsy, Spastic Quadriplegic, 3

Diseases related to Cerebral Palsy, Spastic Quadriplegic, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 50, autosomal recessive 11.5

Symptoms & Phenotypes for Cerebral Palsy, Spastic Quadriplegic, 3

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
strabismus
supranuclear gaze palsy
exotropia

Neurologic Central Nervous System:
global developmental delay
cognitive impairment
spastic diplegia
poor speech
spastic quadriplegia
more
Abdomen Gastrointestinal:
dysphagia

Head And Neck Head:
microcephaly, borderline


Clinical features from OMIM:

617008

Human phenotypes related to Cerebral Palsy, Spastic Quadriplegic, 3:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 exotropia 32 HP:0000577
3 supranuclear gaze palsy 32 HP:0000605
4 nystagmus 32 HP:0000639
5 seizures 32 occasional (7.5%) HP:0001250
6 global developmental delay 32 HP:0001263
7 spastic diplegia 32 HP:0001264
8 dysphagia 32 HP:0002015
9 poor speech 32 HP:0002465
10 spastic tetraplegia 32 HP:0002510
11 abnormal pyramidal signs 32 HP:0007256
12 cognitive impairment 32 HP:0100543

Drugs & Therapeutics for Cerebral Palsy, Spastic Quadriplegic, 3

Search Clinical Trials , NIH Clinical Center for Cerebral Palsy, Spastic Quadriplegic, 3

Genetic Tests for Cerebral Palsy, Spastic Quadriplegic, 3

Anatomical Context for Cerebral Palsy, Spastic Quadriplegic, 3

Publications for Cerebral Palsy, Spastic Quadriplegic, 3

Variations for Cerebral Palsy, Spastic Quadriplegic, 3

UniProtKB/Swiss-Prot genetic disease variations for Cerebral Palsy, Spastic Quadriplegic, 3:

75
# Symbol AA change Variation ID SNP ID
1 ADD3 p.Gly367Asp VAR_076996 rs564185858

ClinVar genetic disease variations for Cerebral Palsy, Spastic Quadriplegic, 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ADD3 NM_016824.4(ADD3): c.1100G> A (p.Gly367Asp) single nucleotide variant Pathogenic rs564185858 GRCh37 Chromosome 10, 111882007: 111882007
2 ADD3 NM_016824.4(ADD3): c.1100G> A (p.Gly367Asp) single nucleotide variant Pathogenic rs564185858 GRCh38 Chromosome 10, 110122249: 110122249

Expression for Cerebral Palsy, Spastic Quadriplegic, 3

Search GEO for disease gene expression data for Cerebral Palsy, Spastic Quadriplegic, 3.

Pathways for Cerebral Palsy, Spastic Quadriplegic, 3

GO Terms for Cerebral Palsy, Spastic Quadriplegic, 3

Sources for Cerebral Palsy, Spastic Quadriplegic, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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